Linked Data
ClinVar Variation Id:
191809
ClinVar RCV Id:
RCV000172148
RCV001132849
RCV001132848
RCV001132850
RCV001347072
RCV001132847
RCV001136253
dbSNP Id:
rs369703073
ExAC:
2:179394999 C / T
gnomAD v2:
2-179394999-C-T
gnomAD v3:
2-178530272-C-T
gnomAD v4:
2-178530272-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530272C>T , CM000664.2:g.178530272C>T | GRCh38 |
| NC_000002.11:g.179394999C>T , CM000664.1:g.179394999C>T | GRCh37 |
| NC_000002.10:g.179103245C>T | NCBI36 |
| NG_011618.3:g.305531G>A , LRG_391:g.305531G>A | |
| NG_051363.1:g.12446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98639G>A (TTN) | ENSP00000343764.6:p.Arg32880Gln | |
| ENST00000342175.11:c.79724G>A (TTN) | ENSP00000340554.6:p.Arg26575Gln | |
| ENST00000359218.10:c.79523G>A (TTN) | ENSP00000352154.5:p.Arg26508Gln | |
| ENST00000342175.10:c.79724G>A (TTN) | ENSP00000340554.6:p.Arg26575Gln | |
| ENST00000342992.10:c.98639G>A (TTN) | ENSP00000343764.6:p.Arg32880Gln | |
| ENST00000359218.9:c.79523G>A (TTN) | ENSP00000352154.5:p.Arg26508Gln | |
| ENST00000460472.6:c.79148G>A (TTN) | ENSP00000434586.1:p.Arg26383Gln | |
| ENST00000589042.5:c.106343G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg35448Gln | |
| ENST00000591111.5:c.101420G>A (TTN) | ENSP00000465570.1:p.Arg33807Gln | |
| ENST00000615779.4:c.101420G>A (TTN) | ENSP00000483597.1:p.Arg33807Gln | |
| NM_001256850.1:c.101420G>A (TTN) | NP_001243779.1:p.Arg33807Gln | |
| NM_001267550.2:c.106343G>A (TTN) MANE Select | NP_001254479.2:p.Arg35448Gln | |
| NM_003319.4:c.79148G>A (TTN) | NP_003310.4:p.Arg26383Gln | |
| NM_133378.4:c.98639G>A (TTN) | NP_596869.4:p.Arg32880Gln | |
| NM_133432.3:c.79523G>A (TTN) | NP_597676.3:p.Arg26508Gln | |
| NM_133437.4:c.79724G>A (TTN) | NP_597681.4:p.Arg26575Gln | |
| NR_038271.1:n.446+6636C>T (TTN-AS1) | ||
| NR_038272.1:n.220-5460C>T (TTN-AS1) | ||
| XM_011511729.1:c.105440G>A (TTN) | XP_011510031.1:p.Arg35147Gln | |
| XM_011511730.1:c.79334G>A (TTN) | XP_011510032.1:p.Arg26445Gln | |
| XM_011511731.1:c.79193G>A (TTN) | XP_011510033.1:p.Arg26398Gln | |
| XM_017004819.1:c.105236G>A (TTN) | XP_016860308.1:p.Arg35079Gln | |
| XM_017004820.1:c.100634G>A (TTN) | XP_016860309.1:p.Arg33545Gln | |
| XM_017004821.1:c.100631G>A (TTN) | XP_016860310.1:p.Arg33544Gln | |
| XM_017004822.1:c.97673G>A (TTN) | XP_016860311.1:p.Arg32558Gln | |
| XM_017004823.1:c.79289G>A (TTN) | XP_016860312.1:p.Arg26430Gln | |
| XM_024453094.1:c.100784G>A (TTN) | XP_024308862.1:p.Arg33595Gln | |
| XM_024453095.1:c.100781G>A (TTN) | XP_024308863.1:p.Arg33594Gln | |
| XM_024453096.1:c.100214G>A (TTN) | XP_024308864.1:p.Arg33405Gln | |
| XM_024453097.1:c.97556G>A (TTN) | XP_024308865.1:p.Arg32519Gln | |
| XM_024453098.1:c.97475G>A (TTN) | XP_024308866.1:p.Arg32492Gln | |
| XM_024453099.1:c.79238G>A (TTN) | XP_024308867.1:p.Arg26413Gln | |
| XM_024453100.1:c.69092G>A (TTN) | XP_024308868.1:p.Arg23031Gln |